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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cutis marmorata telangiectatica congenita


Other Names for this Disease
  • CMTC
  • Hereditary cutis marmorata telangiectatica congenita
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Overview

Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by cutis marmorata, telangiectasia, and phlebectasia (varicose vein). The skin findings most commonly occur on the legs, less commonly on the arms and trunk, and rarely do they involve the face and scalp. It is occasionally associated with skin ulceration or skin atrophy. The skin symptoms associated with classical CMTC generally improve with age. 

CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (non-inherited), although rare cases have been observed in families.[1][2]
Last updated: 7/17/2015

References

  1. Grevelink SV, Mulliken JB. Vascular Anomalies and Tumors of Skin and Subcutaneous Tissues. In: Fitzpatrick et al.,. Dermatology in General Medicine. New York, NY: McGraw-Hill; 2003;
  2. Schwartz RA, Zalewska A, Erdal E, and Onder M.. Cutis Marmorata Telangiectatica Congenita. Medscape Reference. Last updated: 06/29/2015; http://emedicine.medscape.com/article/1086221-overview. Accessed 7/17/2015.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cutis marmorata telangiectatica congenita. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CMTC
  • Hereditary cutis marmorata telangiectatica congenita
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.